American Journal of Ophthalmology
Volume 133, Issue 2 , Pages 203-210 , February 2002

A Frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner’s vitreoretinal degeneration

  • Sanjoy K Gupta, MD, PhD

      Affiliations

    • Corresponding Author InformationReprint requests to Sanjoy K. Gupta, MD, Ph.D., University of Ottawa Eye Institute, 501 Smyth, Ottawa, ON, Canada K1H 8L6; fax: 613-737-8836
    • University of Ottawa Eye Institute, Ottawa, Canada (S.K.G., B.C.L., K.F.D.); Ottawa Health Research Institute, Ottawa, Canada (S.K.G., K.F.D., D.E.B.)
    • ,
  • Brian C Leonard, MD

      Affiliations

    • University of Ottawa Eye Institute, Ottawa, Canada (S.K.G., B.C.L., K.F.D.); Ottawa Health Research Institute, Ottawa, Canada (S.K.G., K.F.D., D.E.B.)
    • ,
  • Karim F Damji, MD, FRCSC

      Affiliations

    • University of Ottawa Eye Institute, Ottawa, Canada (S.K.G., B.C.L., K.F.D.); Ottawa Health Research Institute, Ottawa, Canada (S.K.G., K.F.D., D.E.B.)
    • ,
  • Dennis E Bulman, PhD

      Affiliations

    • University of Ottawa Eye Institute, Ottawa, Canada (S.K.G., B.C.L., K.F.D.); Ottawa Health Research Institute, Ottawa, Canada (S.K.G., K.F.D., D.E.B.)

,Accepted 9 October 2001.

References 

  1. Wagner H. Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd. 1938;100:840–857
  2. Hirose T, Lee KY, Schepens CL. Wagner’s hereditary vitreoretinal degeneration and retinal detachment. Arch Ophthalmol. 1973;89:176–185
  3. Graemiger RA, Niemeyer G, Schneeberger SA, Messmer EP. Wagner vitreoretinal degeneration. Follow-up of the original pedigree. Ophthalmol. 1995;102:1830–1839
  4. Stickler GB, Belau PG, Farrell FJ, et al.  Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965;40:433–455
  5. Ayad S, Weiss JB. A new look at vitreous-humor collagen. Biochem J. 1984;218:835–840
  6. Snead MP, Yates JRW. Clinical and molecular genetics of Stickler syndrome. J Med Genet. 1999;36:353–359
  7. Brown DM, Graemiger RA, Hergersberg M, et al.  Genetic linkage of Wagner’s disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol. 1995;113:671–675
  8. Alexander RL, Shea M. Wagner’s disease. Arch Ophthalmol. 1965;74:310–318
  9. Tsuneyoshi T, Sokolov BP, Prockop DJ. PCR detection of a HindIII polymorphism in the human gene for type II procollagen (COL2A1). Nucleic Acids Res. 1991;19:4571
  10. Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, Ala-Kokko L. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome (Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis). Genomics. 1993;17:218–221
  11. Sandell LJ, Morris N, Robbins JR, Goldring MB. Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development (differential expression of the amino-propeptide). J Cell Biol. 1991;114:1307–1319
  12. Bishop PN, Reardon AJ, McLeod D, Ayad S. Identification of alternatively spliced variants of type II procollagen in vitreous. Biochem Biophys Res Commun. 1994;203:289–295
  13. Richards AP, Martin S, Yates JR, et al.  COL2A1 exon 2 mutations (Relevance to the Stickler and Wagner syndromes). Br J Ophthalmol. 2000;84:364–371
  14. Rosberger DF, Goldberg M. Hereditary vitreoretinopathies. In:  Trabousli E editors. Genetic diseases of the eye. 1998;p. 435–460
  15. Jansen LMAA. Degeneratio hyaloideo-retinalis hereditaria. Ophthalmologica. 1962;144:458–464
  16. Gillespie F, Covelli B. Hereditary high myopia with retinal detachment—A family study. Arch Ophthalmol. 1963;69:733–736
  17. Hagler WS, Crosswell HH. Radial perivascular chorioretinal degeneration and retinal detachment. Trans Am Acad Ophthalmol Otolaryngol. 1968;72:203–216
  18. Edmund J. Familial retinal detachment. Acta Ophthalmol. 1961;39:644
  19. Delaney WV, Podedworny W, Havener WH. Inherited retinal detachment. Arch Ophthalmol. 1963;69:44–50
  20. Friedman B. Familial retinal degeneration leading to detachment and cataract formation. Arch Ophthalmol. 1939;22:271
  21. Marshall D. Ectodermal dysplasia. Report of kindred with ocular anomalies and hearing defect. Am J Ophthalmol. 1958;45:143–156
  22. Frandsen E. Hereditary hyaloideo-retinal degeneration (Wagner) in a Danish family. Acta Ophthalmol. 1966;44:223–232
  23. Hirose T, Lee KY, Schepens CL. Snowflake degeneration in hereditary vitreoretinal degeneration. Am J Ophthalmol. 1974;77:143–153
  24. Spranger JW, Langer LO. Spondylo-epiphyseal dysplasia congenita. Radiology. 1970;94:313–322
  25. Maumenee IH. Vitreoretinal degeneration as a sign of generalized connective tissue diseases. Am J Ophthalmol. 1979;88:432–449
  26. Rossier J, Eisner G. The pseudo-posterior limiting layer syndrome (A heredodegeneration with autosomal dominant transmission). Graefes Arch Exp Clin Ophthalmol. 1994;232:16–24

☆ This work was supported by a grant from the E.A. Baker Foundation (S.K.G. and K.F.D.) and the Canadian Institute of Health Research (D.E.B.).

PII: S0002-9394(01)01339-3

American Journal of Ophthalmology
Volume 133, Issue 2 , Pages 203-210 , February 2002

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